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Linkage detection tests under heterogeneity
Author(s) -
Risch Neil,
Rao D. C.
Publication year - 1989
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/gepi.1370060402
Subject(s) - linkage (software) , pedigree chart , penetrance , lod score , type i and type ii errors , genetic linkage , statistics , homogeneous , genetics , mathematics , biology , gene mapping , combinatorics , gene , phenotype , chromosome
A two‐parameter (admixture) test (Lod 2 ) for the detection of linkage which allows for heterogeneity is described. Lod score values for this test which lead to comparable type 1 error probabilities as the conventional (homogeneous) single‐parameter lod score test (Lod 1 ) are derived. For example, a Lod 2 value of 3.70 corresponds to the conventional lod score (Lod 1 ) value of 3.0. In terms of power to detect linkage, the Lod 2 test is advantageous only for moderate to large pedigrees (autosomal dominant inheritance with high penetrance) and when the proportion of linked families is low (less than 40%). Otherwise, there appears to be no serious disadvantage in using the conventional Lod 1 test when heterogeneity is present.